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Results: 141 to 160 of 175

Tests names and labsConditionsGenes, analytes, and microbesMethods

Ciliopathy Panel

Blueprint Genetics
Finland
699
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Hepatic and pancreatic diseases - panels

MGZ Medical Genetics Center
Germany
469
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Joubert Syndrome Panel

Molecular Vision Laboratory
United States
4824
  • C Sequence analysis of the entire coding region

Ciliopathies

Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University
United States
4493
  • C Sequence analysis of the entire coding region

Cystic Disease and Nephronopthisis panel

Clinical Genomics Laboratory Washington University in St. Louis
United States
1633
  • C Sequence analysis of the entire coding region

Liver Diseases Panel by next-generation sequencing (NGS)

Cincinnati Children's Hospital Medical Center Genetics and Genomics Diagnostic Laboratory Cincinnati Children's Hospital Medical Center
United States
7172
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Invitae Congenital Heart Defects and Heterotaxy Panel

Labcorp Genetics (formerly Invitae) LabCorp
United States
12882
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Monogenic causes of nephronophthisis and related ciliopathies

Hildebrandt Laboratory Boston Children's Hospital
United States
793
  • C Sequence analysis of the entire coding region

Renal-hepatic-pancreatic dysplasia

Bioarray
Spain
11
  • C Sequence analysis of the entire coding region

Single gene testing NPHP3

CeGaT GmbH
Germany
31
  • C Sequence analysis of the entire coding region

Retinal Dystrophy Panel

Molecular Vision Laboratory
United States
372283
  • C Sequence analysis of the entire coding region

Senior-Loken Syndrome Panel

CeGaT GmbH
Germany
1412
  • C Sequence analysis of the entire coding region

Meckel Syndrome Panel

CeGaT GmbH
Germany
1112
  • C Sequence analysis of the entire coding region

Senior Loken Syndrome Panel

CeGaT GmbH
Germany
1112
  • C Sequence analysis of the entire coding region

Nephronophthisis Panel

CeGaT GmbH
Germany
1819
  • C Sequence analysis of the entire coding region

Renal Dysplasia, Renal Agenesia, CAKUT Panel

CeGaT GmbH
Germany
132
  • C Sequence analysis of the entire coding region

Senior Loken Syndrome Panel

CeGaT GmbH
Germany
1412
  • C Sequence analysis of the entire coding region

Heterotaxy Panel

Cincinnati Children's Hospital Medical Center Genetics and Genomics Diagnostic Laboratory Cincinnati Children's Hospital Medical Center
United States
156114
  • C Sequence analysis of the entire coding region

NPHP3 Single Gene

Fulgent Genetics
United States
31
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Invitae Ciliopathies Panel

Labcorp Genetics (formerly Invitae) LabCorp
United States
144102
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Results: 141 to 160 of 175

IMPORTANT NOTE: NIH does not independently verify information submitted to the GTR; it relies on submitters to provide information that is accurate and not misleading. NIH makes no endorsements of tests or laboratories listed in the GTR. GTR is not a substitute for medical advice. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.